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Hemihypertrophy

1 OMIM reference -
3 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Hemihypertrophy

Rabson-Mendenhall syndrome

H19	(OMIM)		INSR	(UniProt - OMIM)
IGF2	(UniProt - OMIM)
KCNQ1OT1	(OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF2	(0.52)	INSR

Citations in the biomedical literature:

Hemihypertrophy		Rabson-Mendenhall syndrome
	Synonym(s): - Hemi 3 syndrome - Hemicorporal hypertrophy - Isolated hemihyperplasia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare oncologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056731

Hemihypertrophy		Rabson-Mendenhall syndrome
	Very frequent - Asymmetric rib cage / thorax - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Scoliosis Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Areflexia / hyporeflexia - Bladder and ureter anomalies - Congenital cardiac anomaly / malformation / cardiopathy - Inguinal / inguinoscrotal / crural hernia - Insensitivity to pain - Myelomeningocele - Nephroblastoma / Wilms tumor - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome